Canonical Allele Identifier: CA1855118686
Gene: TMC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72816212T= , CM000671.2:g.72816212T= GRCh38
NC_000009.11:g.75431128T= , CM000671.1:g.75431128T= GRCh37
NC_000009.10:g.74620948T= NCBI36
NG_008213.1:g.299412T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1763+2T= MANE Select ENSP00000297784.6:n.1763+2T=
ENST00000644967.1:c.1325+2T= ENSP00000496159.1:n.1325+2T=
ENST00000645053.1:c.1258-10657T= ENSP00000493838.1:n.1258-10657T=
ENST00000645208.2:c.1763+2T= ENSP00000494684.1:n.1763+2T=
ENST00000645773.1:c.1637+2T= ENSP00000493698.1:n.1637+2T=
ENST00000645787.1:n.1906+2T=
ENST00000646619.1:c.1325+2T= ENSP00000493726.1:n.1325+2T=
ENST00000651183.1:c.1325+2T= ENSP00000498723.1:n.1325+2T=
ENST00000297784.9:c.1763+2T= ENSP00000297784.5:n.1763+2T=
ENST00000340019.4:c.1763+2T= ENSP00000341433.3:n.1763+2T=
ENST00000469455.1:n.244+2T=
ENST00000486417.5:n.387+2T=
NM_138691.2:c.1763+2T= NP_619636.2:n.1763+2T=
XM_011518213.1:c.2351+2T= XP_011516515.1:n.2351+2T=
XM_017014256.1:c.1766+2T= XP_016869745.1:n.1766+2T=
NM_138691.3:c.1763+2T= MANE Select NP_619636.2:n.1763+2T=